A Wonderful Four-Year Old Boy Lives for Now, Unaware of His Sad Future with Niemann Pick Type C

Mael, at 19 months, was diagnosed with the rare, incurable and fatal storage disorder Niemann-Pick C (NPC).

This is Mael, a four and a half year old Swiss boy, affected by the ultra rare and fatal storage disease, Niemann Pick Type C (NPC). Mael is a very happy and wonderful boy and does not know about his uncertain and sad future. NPC will slowly [...]

Lysosomal Storage Disorders Support Society of India (LSDSS) Supports Patients with Rare Metabolic Disorders in India

The Society will track worldwide research into the causes, treatment and management of these diseases.

The LSD Support Society of India is a group comprised of patients, families, and caregivers who know what it’s like to live with Lysosomal Storage Disorders (LSDs).  If you have never heard of lysosomal storage diseases, they are group of approximately 40 rare inherited metabolic [...]

Top Hospitals and Doctors Fail To Find Elevated Bilirubin Levels and Enlarged Spleen at Birth as Niemann Pick Type C disease

Chase is fighting for his life and battling against a fatal neurodegenerative disorder called Niemann Pick Type C

Chase was born on August 21, 2009, in Jacksonville Florida. He arrived a bit early via C-Section. At two days old, his bilirubin levels were elevated and a roller-coaster ride to diagnosis began for our family.  At first, Chase was misdiagnosed with Cholestatic Liver Disease [...]

Mucopolysaccharidosis II: Saving Case

hogan_mucopolysaccharidosis_hunter_syndrome

Case was only 4 hours old when he first went on a ventilator. His young life was peppered by minor symptoms that sent him to one specialist after another.  A swallow study, a head ultrasound, adenoids removed, pectus excavatum, laryngomalacia, uncontrollable diarrhea, and falling. It [...]

Niemann-Pick Disease: An Update on Joseph Colton

Just Testing the Captions

Our 4 year old son Joseph Colton has Niemann-Pick disease type A/B.   The Niemann-Pick (NP) diseases belong to a family of 40+ inherited disorders identified as lysosomal storage diseases or LSDs.  There are two distinct sub-families of Niemann Pick diseases.  NPA and NPB diseases are [...]

Saving Joseph

Just Testing the Captions

Our 4 year old son Joseph Colton has Niemann-Pick disease type A/B.   The Niemann-Pick (NP) diseases belong to a family of 40+ inherited disorders identified as lysosomal storage diseases or LSDs.  There are two distinct sub-families of Niemann Pick diseases.  NPA and NPB diseases are [...]

Cherry Red Spot – Telltale Sign of Neurometabolic Disorders

cherry-red-spot

I received a call today at The Hide and Seek Foundation from a woman who’s cousin’s seven month old son, Ben, has been displaying possible symptoms of a neurometabolic disease. You know, darting eyes, not rolling over, trunk weakness. He went to a neurologist yesterday [...]